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pelvis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pelvis syndrome

MONDO:0019388

Also known as:LUMBAR syndromeLower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndromeSACRAL syndrome

Overview

PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.

Diagnosis

Biomarker and diagnostic research for pelvis syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for pelvis syndrome.

25 publications have been identified in PubMed for pelvis syndrome. Research spans Case Report / Case Series (36%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (16%).

Research Type	Count	% of Total
Patient case studies	9	36%

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 6:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:83628

GARD

Genetic and Rare Diseases Info Center

GARD:19045

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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pelvis syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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